Oral health and oromotor function in rare diseases--a database study.

The aim was to study oral health and oromotor function in individuals with rare diseases. A disease is defined as rare when it affects no more than 100 individuals per million population and leads to a marked degree of disability. An affected nervous or musculoskeletal system, cognitive impairment, neuropsychiatric disorders and craniofacial malformations are common in rare diseases and may all be risk factors for oral health and oromotor function. In 1996-2008, 1,703 individuals with 169 rare diseases, aged 3-67 years, answered a questionnaire about general health, oral health and orofacial function and 1,614 participated in a clinical examination. A control group of 135 healthy children, aged 3-14 years, was also included in the study. Oral health was examined by a dentist and oromotor function by a speech-language pathologist. The participants with rare diseases were recruited via family programmes, referrals to the clinic and research projects, while the controls were randomly selected from a Swedish municipality. In the diagnosis group, 40% had moderate or severe problems coping with dental treatment, 43% were receiving specialised dental care. Difficulties related to tooth brushing were common compared with the controls. Approximately two thirds of the study group and the control group were caries free. Frontal open bite, long face and high palate were common in individuals with rare diseases compared with controls. Oromotor impairment was a frequent finding (43%) and was absent among the controls. There was a significant correlation between oromotor impairment and certain structural deviations and oral-health issues. Compared with healthy controls, individuals with rare diseases often have difficulty coping with dental treatment and managing tooth brushing. Dysmorphology and oromotor dysfunction are frequent findings in this population and they often require extra prophylactic dental care and access to specialised dental care in order to prevent oral disease.

Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.

Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.

Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study.

OBJECTIVES: To study the prevalence of oral problems reported among a large group of adults with Ehlers-Danlos Syndrome (EDS). Furthermore, to compare proportions of disorders and general psychological well-being with those in a cohort of randomized population-based controls. DESIGN: A questionnaire study. SETTING AND SAMPLE POPULATION: A total of 265 persons with EDS (response rate 77%) and 750 controls (response rate 63%) in a population-based cohort. Sixty persons were excluded from the EDS group (support members, children, undiagnosed EDS) leaving a final study group of 144 adults. The final control group consisted of 331 persons since many had sent back unanswered questionnaires. EXPERIMENTAL VARIABLES: Questions concerning general and oral symptoms, VAS scales for masticatory muscle pain ratings and General Health Questionnaire (GHQ12) questions were included. OUTCOME MEASURE: Proportions of affirmative answers in EDS group and controls were compared. Mean values for ratings on VAS scales. Proportions of GHQ12 scores with a threshold score of four or more. RESULTS: The proportions of affirmative answers for persons with EDS concerning general health problems, oral problems and masticatory muscle symptoms were significantly higher compared with controls. In the EDS group those who had daily pain in the masticatory muscles had significantly higher mean values on the VAS scales compared with those who had pain a few days per month. A GHQ12 score of four or more was significantly more common in the EDS group than in the controls, suggesting that a decline in psychological well-being was also more common in this group. CONCLUSION: It is important that dental practitioners should be aware of the oral problems associated with EDS and the impact the disease has on quality of life.